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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYRF
(A672D +1 more)
Single nucleotide variant
(missense variant)
Cardiac-urogenital syndrome
GLikely pathogenic
MYRF
(E691K +1 more)
Single nucleotide variant
(missense variant)
MYRF-related disorder
GLikely pathogenic
MYRF
(R951* +1 more)
Single nucleotide variant
(nonsense)
MYRF-related disorder
GPathogenic
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